ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.43T>A (p.Ser15Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002333742 SCV002633334 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-12 criteria provided, single submitter clinical testing The p.S15T variant (also known as c.43T>A), located in coding exon 1 of the ALK gene, results from a T to A substitution at nucleotide position 43. The serine at codon 15 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102580 SCV002931591 uncertain significance Neuroblastoma, susceptibility to, 3 2022-10-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 15 of the ALK protein (p.Ser15Thr).

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